John Christodoulou

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André BP van Kuilenburg, Claudia Kemper, Erin E West, Gabor Szinnai, Martina Huemer

Journal article  |  2021  |  Molecular Genetics and Metabolism Reports

Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1..

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

Ann E Frazier, Alison G Compton, Yoshihito Kishita, Daniella H Hock, AnneMarie E Welch, Sumudu SC Amarasekera, Rocio Rius, Luke E Formosa, Atsuko Imai-Okazaki, David Francis, Min Wang, Nicole J Lake, Simone Tregoning, Jafar S Jabbari, Alexis Lucattini, Kazuhiro R Nitta, Akira Ohtake, Kei Murayama, David J Amor, George McGillivray, et al.

Journal article  |  2021  |  Med

Background: In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosi..

Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

AE Frazier, AG Compton, Y Kishita, DH Hock, AE Welch, SSC Amarasekera, R Rius, LE Formosa, A Imai-Okazaki, D Francis, M Wang, NJ Lake, S Tregoning, JS Jabbari, A Lucattini, R Nitta, A Ohtake, K Murayama, DJ Amor, G McGillivray, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic loss-of-function variations in SMO, encoding the key transducer of the Sonic Hedgehog pathway, cause a broad phenotypic spectrum of hedgehogopathies

TL Le, Y Sribudiani, X Dong, C Huber, C Kois, G Baujat, CT Gordon, V Mayne, L Galmiche, V Serre, N Goudin, M Zarhrate, C Bole-Feysot, C Masson, P Nitschke, FW Verheijen, L Pais, A Pelet, S Sadedin, JA Pugh, et al.

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Functional genomics and extended analyses of unsolved exome-negative cases through the Undiagnosed Diseases Project in Victoria (UDP-Vic)

TY Tan, T Cloney, NB Tan, L Gallacher, J Elliott, G Helman, C Simons, S Sadedin, L Pais, A O'Donnell-Luria, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Biallelic loss-of-function NRROS variants impairing active TGF-ss 1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification

X Dong, NB Tan, KB Howell, S Barresi, L Freeman, D Vecchio, M Piccione, F Clementina Radio, D Calame, S Zong, S Eggers, IE Scheffer, TY Tan, NJ Van Bergen, M Tartaglia, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10

Guy Helman, Alison G Compton, Daniella H Hock, Marzena Walkiewicz, Gemma R Brett, Lynn Pais, Tiong Y Tan, Ricardo De Paoli-Iseppi, Michael B Clark, John Christodoulou, Susan M White, David R Thorburn, David A Stroud, Zornitza Stark, Cas Simons

Journal article  |  2020  |  Human Mutation

The diagnosis of Mendelian disorders following uninformative exome and genome sequencing remains a challenging and often unmet nee..

Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A).

Simranpreet Kaur, Nicole J Van Bergen, Bruria Ben-Zeev, Emanuela Leonardi, Tiong Y Tan, David Coman, Benjamin Kamien, Susan M White, Miya St John, Dean Phelan, Kristin Rigbye, Sze Chern Lim, Michelle C Torres, Melanie Marty, Elena Savva, Teresa Zhao, Sean Massey, Alessandra Murgia, Wendy A Gold, John Christodoulou

Journal article  |  2020  |  Journal of Genetics and Genomics

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Sebastian Lunke, Stefanie Eggers, Meredith Wilson, Chirag Patel, Christopher P Barnett, Jason Pinner, Sarah A Sandaradura, Michael F Buckley, Emma I Krzesinski, Michelle G de Silva, Gemma R Brett, Kirsten Boggs, David Mowat, Edwin P Kirk, Lesley C Ades, Lauren S Akesson, David J Amor, Samantha Ayres, Anne Baxendale, Sarah Borrie, et al.

Journal article  |  2020  |  Obstetrical & Gynecological Survey

Cover, Volume 41, Issue 10

Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Yang Yue, Carolyn Ellaway, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Irene Bruno, Lia Boyle, Vincenzo Nigro, Annalaura Torella, Tony Roscioli, Mark J Cowley, Sean Massey, Rhea Sonawane, Matthew D Burton, Bitten Schonewolf‐Greulich, Zeynep Tümer, et al.

Journal article  |  2020  |  Human Mutation